Canonical Allele Identifier: CA472736568

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413291C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392061C>T , CM000673.2:g.6392061C>T	GRCh38
NC_000011.9:g.6413291C>T , CM000673.1:g.6413291C>T	GRCh37
NC_000011.8:g.6369867C>T	NCBI36
NG_011780.1:g.6637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.996C>T MANE Select	ENSP00000340409.4:p.Pro332=
ENST00000342245.8:c.996C>T	ENSP00000340409.4:p.Pro332=
ENST00000526280.1:c.185C>T
ENST00000527275.5:c.993C>T	ENSP00000435350.1:p.Pro331=
ENST00000531303.5:c.438+558C>T	ENSP00000432625.1:n.438+558C>T
ENST00000533123.5:c.996C>T	ENSP00000435950.1:p.Pro332=
ENST00000534405.5:c.996C>T	ENSP00000434353.1:p.Pro332=
NM_000543.4:c.996C>T	NP_000534.3:p.Pro332=
NM_001007593.2:c.993C>T	NP_001007594.2:p.Pro331=
XM_005253075.3:c.996C>T	XP_005253132.1:p.Pro332=
XM_011520303.1:c.996C>T	XP_011518605.1:p.Pro332=
XM_011520304.1:c.996C>T	XP_011518606.1:p.Pro332=
XR_930886.1:n.1294C>T
NM_001318087.1:c.996C>T	NP_001305016.1:p.Pro332=
NM_001318088.1:c.35C>T	NP_001305017.1:p.Pro12Leu
NM_001365135.1:c.996C>T	NP_001352064.1:p.Pro332=
NR_027400.2:n.1181C>T
NR_134502.1:n.623+558C>T
XM_011520304.2:c.996C>T	XP_011518606.1:p.Pro332=
XR_001747940.2:n.1121C>T
XR_002957158.1:n.1121C>T
NM_000543.5:c.996C>T MANE Select	NP_000534.3:p.Pro332=
NM_001007593.3:c.993C>T	NP_001007594.2:p.Pro331=
NM_001318087.2:c.996C>T	NP_001305016.1:p.Pro332=
NM_001318088.2:c.35C>T	NP_001305017.1:p.Pro12Leu
NM_001365135.2:c.996C>T	NP_001352064.1:p.Pro332=
NR_027400.3:n.1121C>T
NR_134502.2:n.563+558C>T